ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)

gnomAD frequency: 0.00001  dbSNP: rs724160017
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347906 SCV001542187 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2023-05-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AIFM1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AIFM1 protein function. ClinVar contains an entry for this variant (Variation ID: 162475). This variant is present in population databases (rs724160017, gnomAD 0.005%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 282 of the AIFM1 protein (p.Thr282Met).
Deafness Gene Diagnosis, Xijing Hospital RCV000149860 SCV000196714 likely pathogenic Deafness, X-linked 5 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.